Genes in Action Summary
Enter the information related to the gene your group is studying into the grid shown
below. Feel free to add extra lines in any of the boxes. Once you have saved this
document, submit it by email to colavito_mary@smc.edu by 2:30 pm on Wednesday,
May 26th.
Student Names
Jacqueline Prado, Lida Martinez
Name of Gene
MSH2 (mutS homolog 2)
Chromosomal Location
Chromosome 2 (between 2p22 and p21)
Mode of Inheritance of allele
causing disease (autosomal
dominant, autosomal
recessive, sex-linked
dominant, sex-linked
recessive, mitochondrial).
It’s an autosomal dominant
Name of Protein Product
MSH2 protein
Function of Normal Protein in
the Cell
During DNA replication, mistakes may be
made in the DNA and this protein joins
with either MSH3 protein or MSH6 protein
and they create an active protein complex.
With the protein complex they can find the
place on the DNA where the mistake was
made.
Most Common Mutation
(change) described at the
DNA level
germline MSH2 gene mutation
Effect of Faulty Protein
Product (or lack of protein) in
the Cell
Many errors would not be able to get
repaired in the process of cell division.
The errors would keep adding up and that
would cause the cells to stop working
correctly.
Organ System(s) affected by
gene product
Digestive system, urinary system, nervous
system, reproductive system,
integumentary system, cardiovascular
system, and lymphatic system.
Effects of the faulty protein
product (or lack of product)
on this (these) organ
systems
Tumors can form in the colon
Effects of normal gene
product on body as a whole
Effects of faulty gene product
(or lack of product) on body
as a whole
The msh2 gene will be able to make all of the
necessary repairs on the mistakes that occur
when DNA is replicated.
Greater risk of developing brain, skin, and
colon cancer.
Additional aspect of gene
activity of interest to your
team
Possible methods to prevent
the disease related to this
gene (if any)
Besides getting colorectal cancer, a person with a
mutation in the msh2 gene is also likely to get
cancer in the digestive organs (such as small
intestine, liver and stomach), skin and brain.
Screenings can help a person detect
cancer even when there are no
symptoms. Looking into your family
history is also important to know which
diseases you’re more likely to get. Eating
vegetables and fruits and exercising.
Effective Therapy for the
disease related to this gene
(if any)
Chemotherapy, taking drugs that attack the
cancer cells, through forms of radiation, and
surgery in the colon.
References
1)
http://www.cancer.org/docroot/cri/content/cri_
2_2_4x_how_is_colorectal_cancer_treated.as
p
2)
http://www.cancer.org/docroot/cri/content/cri_
2_4_2x_can_colon_and_rectum_cancer_be_p
revented.asp
3)
http://ghr.nlm.nih.gov/gene=msh2
4)
http://atlasgeneticsoncology.org/Genes/MSH2
ID340ch2p22.html